Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.W24C

GJB4

266 papers

RefSeq Summary

This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrok...

Pfam Domains

Connexinaa 2–210UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 4

HGNC Alias Symbol

CX30.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153212.3
p.W24C
c.72G>T
Surrounding Variants
1 paper
NM_153212.3
p.W24*
c.72G>A
1 paper
NM_153212.3
p.W24C
c.72G>C
3 papers
NM_153212.3
p.W24*
c.71G>A
1 paper
NM_153212.3
p.I23M
c.69C>G
1 paper
NM_153212.3
p.I23F
c.67A>T
3 papers
NM_153212.3
p.S26Y
c.77C>A
15 papers
NM_153212.3
p.R22H
c.65G>A
2 papers
NM_153212.3
p.V27M
c.79G>A
1 paper
NM_153212.3
p.R22S
c.64C>A
8 papers
NM_153212.3
p.R22C
c.64C>T
1 paper
NM_153212.3
p.V28G
c.83T>G
1 paper
NM_153212.3
p.I30N
c.89T>A
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